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Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
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Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature
TLDR
The high incidence of cerebral ischaemia and ocular abnormalities is emphasized, theHigh incidence of thyroid dysfunction and blood cytopenia is defined, and the absence of effective and durable medical therapies is confirmed.
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Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia
TLDR
By positional cloning, this work defines a previously unknown form of autosomal recessive nonsyndromic congenital sideroblastic anemia, associated with mutations in the gene encoding the erythroid specific mitochondrial carrier family protein SLC25A38, and demonstrates that SLC 25A38 is important for the biosynthesis of heme in eukaryotes.
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Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease
TLDR
A homozygous pathogenic variant in the gene encoding leucine rich repeat and sterile alpha motif 1 (LRSAM1) plays a role in membrane vesicle fusion during viral maturation and for proper adhesion of neuronal cells in culture, and is a strong candidate for the causal gene for the genetic disorder in this kindred.
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Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP–HHT syndrome
TLDR
The combined results show that although the SMAD4 mutations in JP–HHT patients do show a tendency to cluster in the MH2 domain, mutations in other parts of the gene also cause the combined syndrome, so any mutation in SMad4 can cause JP-HHT.
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Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome
TLDR
This is the first report, to the authors' knowledge, of a germline mutation in any gene of the origin recognition complex in a vertebrate organism.
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Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.
TLDR
Seven additional families in which EDS type VII is either dominantly inherited or due to new dominant mutations are identified, expanding the array of mutations known to cause E DS type VII and providing insight into genotype/phenotype relationships in these genes.
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Fluctuating asymmetry and disorders of developmental origin.
TLDR
The usefulness of fluctuating asymmetry as a risk marker for disorders of developmental origin has not been established and one obstacle to this assessment is the lack of odds ratios reported by previous authors.
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Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.
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Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.
TLDR
Most mutations in the alpha-galactosidase A gene causing Fabry disease were private, that codons 111-122 defined a deletion hot-spot, and that different substitutions of the same codon resulted in markedly different disease phenotypes.
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